Figure 6.

Putative enhancer elements within the Slc25a13^hspn deletion. Locations of two putative enhancer elements, hs2313 (Chr6: 6,058,554–6,059,028; GRCm38) and hs1642 (Chr 6: 6,163,229–6,163,674), that lie within the hspn-deleted region (shown as horizontal blue line) of Slc25a13 were obtained from the VISTA Enhancer Browser (http://enhancer-test.lbl.gov/frnt_page.shtml). The hs2313 element is equivalent to the eDlx#23 enhancer (Birnbaum et al. 2012). DNA sequences of both elements show a high degree of phylogenic conservation for noncoding DNA (peaks enclosed by red boxes). An additional noncoding region of high sequence conservation occurs in intron 4 (peak enclosed by green box). Specific deletions corresponding to these conserved regions were created using CRISPR/Cas9 genome editing, and the extent of these deletions are shown by horizontal black lines at the bottom of the figure. The gene structure diagram for Slc25a13 is derived from the Ensembl genome browser, and the phylogenetic conservation diagram is from the University of California, Santa Cruz Genome Browser comparative genomics track.